Unanswered Questions on the Risks and Promises of Pharmacogenetics and Personalized Medicine

Posted By Daniel Mastine – Oct. 26, 2011

On October 5th the McGill Research Group of Health and Law convened an interdisciplinary panel to discuss emerging developments in the fields of Pharmacogenetics and Personalized Medicine (PM). The panel was moderated by Professor Richard Gold and included Professors Jennifer Fishman, Yann Joly, Michael Phillips and Dr. Agnes V. Klein.

One might initially ask how these two seemingly distinct subjects are linked, and what potential impacts they could possibly have on society and medicine? To answer these questions, one must first address what Pharmacogenetics and PM entail. It is important to keep in mind that neither are new areas of medicine, and that they have begun to interact in a concerted manner previously unheard of.

For those who may not be aware, Pharmacogenetics is a specialized subfield situated between clinical and research medicine. It seeks to catalogue the genetic makeup, or biomarkers, of individuals and populations. The results assist researchers to understand why no two patients react/respond to a drug in quite the same manner. This endeavor provides pharmaceutical researchers and medical practitioners with a better understanding of how genetic diversity influences why medications are metabolized differently.In so doing, the safety of pharmacological treatments and their efficacy are enhanced and a truer picture of drugs is achieved.

PM conversely, is a popular medical model which seeks to optimize patient outcomes by tailoring patient treatment plans to individual characteristics. Some examples include: family health histories, the presence of a chronic disease, behaviours or even personal habits of patients to name a few. Practitioners, who ascribe to PM, essentially question the one size fits all norms of standardized medical. They tweak, but do not necessarily alter, customary treatment modalities to suit their patients’ needs. Society is after all based on variation: gender, ethnicity, diet, socioeconomic class, environment, illness, and yes, even genetics. Imagine if medicine could better account for these differences!

So how exactly are Pharmacogenetics and PM linked? As genetic mapping has become more accessible and less costly, some PM practitioners have recently begun to incorporate information from genetic research and personalized testing to guide their treatments decisions. However the slow but steady proliferation of Pharmacogenetics in an era of PM has led some members within the greater medical community to question this budding relationship from legal and bioethical perspectives.

During the panel presentations and subsequent Q and A, four distinct concerns were raised. Three out of the four include: race, informed consent, and privacy/confidentiality. The notion of race within Pharmacogenetics and PM was highlighted as problematic due to conceptual ambiguity and its potential to foster new forms of societal discrimination. Informed consent was noted to be too broadly defined within Pharmacogenetics and PM, leaving research participants and the public with little understanding of the purpose or process. Concerns for privacy and confidentiality were raised regarding the ability to secure the identities of Pharmacogenetic research participants, and in considering the “who, when and how” of data storage and retrieval.

The fourth not yet elaborated element of the discussion focused upon how the emerging intersections between Pharmacogenetics and PM are altering the pharmaceutical industry and medical function. Specifically, what obligations arise or are altered for both as biomarker testing becomes more readily available? The panel discussion suggested that over time, for both researchers and practitioners, the duty of care will increasingly expand to account for genetic factors. This is likely to play out with the expansion of available frontline diagnostic testing to identify individuals at risk. In turn, patient expectations and medical standards will begin to emerge. This will foster a duty for practitioners to prescribe treatments that take into account biomarker testing results. How health care is delivered will be redefined.

Where do we go from here one might ask? The future of medicine may well involve visits to the doctor, where each patient will provide the doctor with their personal genetic information. This scenario would revolutionize PM. Presently however there are just too many uncertainties and unknowns about Pharmacogenetics. This limits its accessibility for practitioners and application to patients as an exercise in PM. The panelists stressed the potential value of a closer relationship between Pharmacogenetics and PM. But they also posed challenging questions which denote the need for both dialogue and transparency in moving forward. This may in turn enable society and the medical community to address the legal and bioethical concerns that Pharmacogenetic research raises.